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Radboud Centre for Mitochondrial Medicine Pediatric MRI score.
Wong SS, Goraj B, Fung CW, Vister J, de Boer L, Koene S, Smeitink J. Wong SS, et al. Among authors: fung cw. Mitochondrion. 2017 Jan;32:36-41. doi: 10.1016/j.mito.2016.11.008. Epub 2016 Nov 16. Mitochondrion. 2017. PMID: 27865797
International Paediatric Mitochondrial Disease Scale.
Koene S, Hendriks JCM, Dirks I, de Boer L, de Vries MC, Janssen MCH, Smuts I, Fung CW, Wong VCN, de Coo IRFM, Vill K, Stendel C, Klopstock T, Falk MJ, McCormick EM, McFarland R, de Groot IJM, Smeitink JAM. Koene S, et al. Among authors: fung cw. J Inherit Metab Dis. 2016 Sep;39(5):705-712. doi: 10.1007/s10545-016-9948-7. Epub 2016 Jun 9. J Inherit Metab Dis. 2016. PMID: 27277220 Free PMC article.
A fatal case of COQ7-associated primary coenzyme Q10 deficiency.
Kwong AK, Chiu AT, Tsang MH, Lun KS, Rodenburg RJT, Smeitink J, Chung BH, Fung CW. Kwong AK, et al. Among authors: fung cw. JIMD Rep. 2019 Apr 3;47(1):23-29. doi: 10.1002/jmd2.12032. eCollection 2019 May. JIMD Rep. 2019. PMID: 31240163 Free PMC article.
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
Yu MH, Tsang MH, Lai S, Ho MS, Tse DML, Willis B, Kwong AK, Chou YY, Lin SP, Quinzii CM, Hwu WL, Chien YH, Kuo PL, Chan VC, Tsoi C, Chong SC, Rodenburg RJT, Smeitink J, Mak CC, Yeung KS, Fung JL, Lam W, Hui J, Lee NC, Fung CW, Chung BH. Yu MH, et al. Among authors: fung jl, fung cw. NPJ Genom Med. 2019 Aug 5;4:18. doi: 10.1038/s41525-019-0091-x. eCollection 2019. NPJ Genom Med. 2019. PMID: 31396399 Free PMC article.
The KLHL40 c.1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes.
Yeung KS, Yu FNY, Fung CW, Wong S, Lee HHC, Fung STH, Fung GPG, Leung KY, Chung WH, Lee YT, Ng VKS, Yu MHC, Fung JLF, Tsang MHY, Chan KYK, Chan SHS, Kan ASY, Chung BHY. Yeung KS, et al. Among authors: fung gpg, fung cw, fung jlf, fung sth. Mol Genet Genomic Med. 2020 Jul;8(7):e1229. doi: 10.1002/mgg3.1229. Epub 2020 Apr 30. Mol Genet Genomic Med. 2020. PMID: 32352246 Free PMC article.
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.
Tsang MHY, Kwong AKY, Chan KLS, Fung JLF, Yu MHC, Mak CCY, Yeung KS, Rodenburg RJT, Smeitink JAM, Chan R, Tsoi T, Hui J, Wong SSN, Tai SM, Chan VCM, Ma CK, Fung STH, Wu SP, Chak WK, Chung BHY, Fung CW. Tsang MHY, et al. Among authors: fung cw, fung jlf, fung sth. Hum Genomics. 2020 Sep 10;14(1):28. doi: 10.1186/s40246-020-00278-0. Hum Genomics. 2020. PMID: 32907636 Free PMC article.
Exome sequencing in paediatric patients with movement disorders.
Kwong AK, Tsang MH, Fung JL, Mak CC, Chan KL, Rodenburg RJT, Lek M, Huang S, Pajusalu S, Yau MM, Tsoi C, Fung S, Liu KT, Ma CK, Wong S, Yau EK, Tai SM, Fung EL, Wu NS, Tsung LY, Smeitink J, Chung BH, Fung CW. Kwong AK, et al. Among authors: fung s, fung jl, fung cw, fung el. Orphanet J Rare Dis. 2021 Jan 15;16(1):32. doi: 10.1186/s13023-021-01688-6. Orphanet J Rare Dis. 2021. PMID: 33446253 Free PMC article.
80 results